Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channels in tsA...

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Gepubliceerd in:Mol Brain
Hoofdauteurs: Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814130/
https://ncbi.nlm.nih.gov/pubmed/31651342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0509-5
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